Gene: PNPT1 ENSG00000138035

Description

polyribonucleotide nucleotidyltransferase 1 [Source:HGNC Symbol;Acc:23166]

Gene Synonyms

COXPD13, DFNB70, OLD35, PNPASE, PNPase, old-35

Location

GRCh37:CM000664.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 9 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000447944.2	PNPT1-001	4411	783aa	ENSP00000400646.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1856	Q8TCS8	NM_033109.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000260604.4	PNPT1-004	3596	179aa	ENSP00000260604.4	Nonsense mediated decay		H7BXF6	-	-
ENST00000415374.1	PNPT1-007	3308	783aa	ENSP00000393953.1	Nonsense mediated decay	CCDS1856	Q8TCS8	-	-
ENST00000429805.1	PNPT1-003	583	71aa	ENSP00000411994.1	Nonsense mediated decay		F8WBI3	-	-
ENST00000415489.1	PNPT1-008	555	139aa	ENSP00000411057.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000481066.1	PNPT1-005	1281	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary